Variants in a regulatory region of the gene HK1 result in the rare disorder of congenital hyperinsulinism. This has been reported in a study published in Nature Genetics. Coding HK1 variants have [...]
A heterozygous variant in ATP5F1B has been identified as causing a mitochondrial disease with failure to thrive despite excessive caloric intake. The results of a study published in The New [...]
A disturbed interaction between TBX15 and ADAMTS2 during embryonic development may cause a previously undescribed craniofacial malformation disorder. Researchers have investigated nine patients [...]
Inactivation of the BCL11A gene by CRISPR/Cas9 genome editing may be a therapeutic option to cure the most severe type of β thalassemia. An ongoing phase I/II study is evaluating the safety and [...]
Biallelic variants in WARS1 underlying autosomal recessive neurodevelopmental disorders have been reported in two recently published international studies led by researchers at the Institute of [...]
Loss-of-function variants in SLC47A1 play a causal role in the development of kidney disease. This is one of the results generated by an extensive metaanalysis of genome-wide association studies [...]
Variants in the RRM1 gene may underlie a disorder that is caused by defective processes of mitochondrial DNA (mtDNA) replication and repair. The protein encoded by RRM1, ribonucleotide reductase [...]
New insights into how the telomere shelterin protein TPP1, encoded by the ACD gene, interacts with telomerase have recently been published in Nature. In their study, researchers at the University [...]
A study published in Cell suggests that abnormal aggregation of the protein encoded by the TMEM106B gene might be a shared feature in the development of diverse neurodegenerative diseases. [...]
Myc-associated zinc-finger protein, encoded by the MAZ gene, has been identified as a new factor impacting on gene regulation and three-dimensional genome organization. US researchers found that [...]
